|1.||Christophi, Christopher: 4 articles (01/2006 - 03/2005)|
|2.||Nikfarjam, Mehrdad: 4 articles (01/2006 - 03/2005)|
|3.||Malcontenti-Wilson, Caterina: 4 articles (01/2006 - 03/2005)|
|4.||Seki, Kunihiko: 3 articles (01/2011 - 01/2011)|
|5.||Tsuda, Hitoshi: 3 articles (01/2011 - 01/2011)|
|6.||Kinoshita, Takayuki: 3 articles (01/2011 - 01/2011)|
|7.||Iwamoto, Eriko: 3 articles (01/2011 - 01/2011)|
|8.||Noguchi, Masakuni: 3 articles (10/2010 - 02/2006)|
|9.||Fujii, Hisatake: 3 articles (10/2010 - 02/2006)|
|10.||Earashi, Mitsuharu: 3 articles (10/2010 - 02/2006)|
|1.||Mitochondrial Diseases (Mitochondrial Disease)
02/01/2011 - "Medicine today offers no cure for patients suffering from mitochondrial disorders, such as lipoamide dehydrogenase (LAD; also known as E3) deficiency, and treatment is limited to symptomatic care. "
04/01/2008 - "Modern medicine offers no cure for mitochondrial disorders such as lipoamide dehydrogenase (LAD) deficiency. "
|2.||Biliary Liver Cirrhosis (Primary Biliary Cirrhosis)
06/01/1995 - "Humoral and cellular immune responses to dihydrolipoamide dehydrogenase (E3): lack of specificity for primary biliary cirrhosis."
09/01/1995 - "The aim of this study was to investigate liver histology in mice after immunization with the conserved self molecule dihydrolipoamide dehydrogenase, E3, a subunit of the mitochondrial 2-OADC enzyme family identified as the M2 autoantigen in the liver disease, primary biliary cirrhosis. "
06/01/1994 - "Previous studies in which quantitative immunofluorescence was used have shown that certain biliary epithelial cells in liver with primary biliary cirrhosis show increased levels of pyruvate dehydrogenase dihydrolipoamide acetyltransferase compared with controls. "
06/01/1995 - "Immune responses to dihydrolipoamide dehydrogenase, the E3 subunit which is a common component of 2-oxoacid dehydrogenase complexes, have been suggested to be associated with the etiology of primary biliary cirrhosis (PBC). "
06/01/1994 - "Distribution of pyruvate dehydrogenase dihydrolipoamide acetyltransferase (PDC-E2) and another mitochondrial marker in salivary gland and biliary epithelium from patients with primary biliary cirrhosis."
|3.||Friedreich Ataxia (Friedreich's Ataxia)
05/01/1980 - "To see whether kinetic assays of lipoamide dehydrogenase could be used for carrier detection or preclinical diagnosis, Michaelis-Menten constants (KmL and KmH) for the enzyme were determined in platelets from families with a form of recessive Friedreich ataxia and low activities of the enzyme. "
06/01/1979 - "Lipoamide dehydrogenase (LAD) kinetic values, Km and Vmax, were normal in 11 patients with Friedreich ataxia. "
12/01/1978 - "Two unrelated patients with Friedreich ataxia were deficient in the activity of the enzyme lipoamide dehydrogenase (LAD). "
12/01/1978 - "Kinetic evidence for a structural abnormality of lipoamide dehydrogenase in two patients with Friedreich ataxia."
07/01/1978 - "Lipoamide dehydrogenase was identified in cultured skin fibroblasts of normal individuals and patients with Friedreich's ataxia. "
|4.||Leigh Disease (Leigh's Disease)
01/01/2013 - "In our review of molecularly confirmed patients with dihydrolipoamide dehydrogenase deficiency, Leigh syndrome was common. "
10/01/2003 - "Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. "
01/01/1989 - "The deficit of total PDHC activity in homogenates of Leigh's disease fibroblasts could be restored by adding exogenous lipoamide dehydrogenase (LAD, E3), the third component of PDHC. "
01/01/2013 - "Exome capture was performed in a boy who developed Leigh disease following a gastroenteritis and had combined PDH and α-KGDH deficiency with a unique amino acid profile that partly ressembled E3 subunit (dihydrolipoamide dehydrogenase / DLD) deficiency. "
01/01/1996 - "Leigh disease with deficiency of lipoamide dehydrogenase: treatment failure with dichloroacetate."
02/01/1981 - "Lipoamide dehydrogenase: rapid heat inactivation in platelets of patients with recessively inherited ataxia."
05/01/1980 - "Preclinical diagnosis and carrier detection in ataxia associated with abnormalities of lipoamide dehydrogenase."
02/01/1981 - "The activity of lipoamide dehydrogenase was abnormally heat-labile in homogenized platelets from seven patients with as recessive ataxia conforming to the syndrome of Friedreich ataxia or clinical variants. "
07/01/1979 - "Reduced activities of lipoamide dehydrogenase (LAD) relative to cytochrome oxidase have been found in 12 or 26 patients with inherited ataxias. "
10/01/2003 - "A boy with recurrent episodes of hypoglycaemia and ataxia, microcephaly, mental retardation, permanent lactic acidaemia, intermittent 2-oxoglutaric aciduria as well as elevation of serum branched chain amino acids was diagnosed with dihydrolipoamide dehydrogenase (E3) deficiency. "
|1.||Pyruvic Acid (Pyruvate)
|3.||Pyruvate Dehydrogenase Complex (Dehydrogenase Complex, Pyruvate)
|5.||3-Hydroxybutyric Acid (beta-Hydroxybutyric Acid)
|6.||Succinic Acid (Succinate)
|10.||Adenosine Triphosphatases (ATPase)